TY  - GEN
AU  - Khayat,Morad
AU  - Tilghman,Joseph Mark
AU  - Chervinsky,Ilana
AU  - Zalman,Lucia
AU  - Chakravarti,Aravinda
AU  - Shalev,Stavit A
TI  - A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
SN  - 1552-4833
PY  - 2016///1019
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Arabs
KW  - Base Sequence
KW  - CD24 Antigen
KW  - biosynthesis
KW  - Child
KW  - Developmental Disabilities
KW  - Exome
KW  - Female
KW  - Glycosylphosphatidylinositols
KW  - Humans
KW  - Israel
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Pedigree
KW  - Phosphotransferases
KW  - Seizures
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37375
ER  -